Canonical Allele Identifier: CA10649911

Gene: CYP24A1

Linked Data

• ClinVar Variation Id: 338846
• ClinVar RCV Id: RCV000297400
• dbSNP Id: rs556468258
• gnomAD v2: 20-52790253-G-A
• gnomAD v3: 20-54173714-G-A
• gnomAD v4: 20-54173714-G-A
• MyVariant Identifiers: chr20:g.52790253G>A (hg19) ; chr20:g.54173714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54173714G>A , CM000682.2:g.54173714G>A	GRCh38
NC_000020.10:g.52790253G>A , CM000682.1:g.52790253G>A	GRCh37
NC_000020.9:g.52223660G>A	NCBI36
NG_008334.1:g.5264C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216862.8:c.-135C>T MANE Select	ENSP00000216862.3:n.-135C>T
ENST00000216862.7:c.-135C>T	ENSP00000216862.3:n.-135C>T
NM_000782.4:c.-135C>T	NP_000773.2:n.-135C>T
NM_001128915.1:c.-135C>T	NP_001122387.1:n.-135C>T
XM_005260304.3:c.-135C>T	XP_005260361.1:n.-135C>T
XM_005260304.5:c.-135C>T	XP_005260361.1:n.-135C>T
XM_017027691.2:c.-135C>T	XP_016883180.1:n.-135C>T
XM_017027692.2:c.-135C>T	XP_016883181.1:n.-135C>T
XM_017027693.2:c.-135C>T	XP_016883182.1:n.-135C>T
NM_000782.5:c.-135C>T MANE Select	NP_000773.2:n.-135C>T
NM_001128915.2:c.-135C>T	NP_001122387.1:n.-135C>T